PLEKHA1

PLEKHA1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1EAZ
Identifiers
Aliases	PLEKHA1 , TAPP1, pleckstrin homology domain containing A1
External IDs	OMIM: 607772; MGI: 2442213; HomoloGene: 11001; GeneCards: PLEKHA1; OMA:PLEKHA1 - orthologs
Gene location (Human) Chr. Chromosome 10 (human) [1] Band 10q26.13 Start 122,374,696 bp [1] End 122,442,602 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 F3 Start 130,467,486 bp [2] End 130,515,042 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of thigh sperm Brodmann area 23 skin of hip middle temporal gyrus postcentral gyrus gingival epithelium synovial joint endothelial cell primary visual cortex Top expressed in neural layer of retina decidua gastrula ciliary body olfactory bulb iris pineal gland CA3 field perirhinal cortex sciatic nerve More reference expression data BioGPS More reference expression data
Gene ontology Molecular function PDZ domain binding phosphatidylinositol-3,4-bisphosphate binding protein binding lipid binding Cellular component cytoplasm membrane nucleoplasm ruffle membrane extracellular exosome nucleus cytosol plasma membrane Biological process B cell receptor signaling pathway roof of mouth development negative regulation of protein kinase B signaling luteinization Leydig cell differentiation estrogen metabolic process androgen metabolic process ruffle organization multicellular organism growth establishment of protein localization skeletal system morphogenesis post-embryonic development female gonad development spermatogenesis phosphatidylinositol 3-kinase signaling platelet-derived growth factor receptor signaling pathway face morphogenesis cellular response to hydrogen peroxide phosphatidylinositol biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 59338 101476 Ensembl ENSG00000107679 ENSMUSG00000040268 UniProt Q9HB21 Q8BUL6 RefSeq (mRNA) NM_001001974 NM_001195608 NM_021622 NM_001330178 NM_133942 NM_001346515 NM_001357696 NM_001382373 NM_001382374 NM_001382375 NM_001382376 NM_001382377 NM_001382378 NM_001382379 RefSeq (protein) NP_001001974 NP_001182537 NP_001317107 NP_067635 NP_001364159 NP_001364160 NP_001364161 NP_001364163 NP_001364164 NP_001364166 NP_001364167 NP_001364169 NP_001364170 NP_001364171 NP_001364172 NP_001364173 NP_001364174 NP_001364175 NP_001364176 NP_001364177 NP_001364178 NP_001364179 NP_001364180 NP_001364181 NP_001364182 NP_001364183 NP_001364184 NP_001364185 NP_001364186 NP_001364187 NP_001333444 NP_598703 NP_001344625 NP_001369302 NP_001369303 NP_001369304 NP_001369305 NP_001369306 NP_001369307 NP_001369308 Location (UCSC) Chr 10: 122.37 – 122.44 Mb Chr 7: 130.47 – 130.52 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Pleckstrin homology domain-containing family A member 1 is a protein that in humans is encoded by the PLEKHA1 gene. ^{[5] [6] [7]}

Interactions

PLEKHA1 has been shown to interact with MPDZ. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000107679 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040268 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Dowler S, Currie RA, Campbell DG, Deak M, Kular G, Downes CP, Alessi DR (Jan 2001). "Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities". Biochem J. 351 (Pt 1): 19–31. doi:10.1042/0264-6021:3510019. PMC   1221362 . PMID   11001876.
6. Hogan A, Yakubchyk Y, Chabot J, Obagi C, Daher E, Maekawa K, Gee SH (Dec 2004). "The phosphoinositol 3,4-bisphosphate-binding protein TAPP1 interacts with syntrophins and regulates actin cytoskeletal organization". J Biol Chem. 279 (51): 53717–24. doi: 10.1074/jbc.M410654200 . PMID   15485858.
7. "Entrez Gene: PLEKHA1 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1".
8. Kimber WA, Trinkle-Mulcahy L, Cheung PC, Deak M, Marsden LJ, Kieloch A, Watt S, Javier RT, Gray A, Downes CP, Lucocq JM, Alessi DR (Feb 2002). "Evidence that the tandem-pleckstrin-homology-domain-containing protein TAPP1 interacts with Ptd(3,4)P2 and the multi-PDZ-domain-containing protein MUPP1 in vivo". Biochem. J. 361 (Pt 3): 525–36. doi:10.1042/0264-6021:3610525. PMC   1222335 . PMID   11802782.

Further reading

• Thomas CC, Dowler S, Deak M, Alessi DR, van Aalten DM (2001). "Crystal structure of the phosphatidylinositol 3,4-bisphosphate-binding pleckstrin homology (PH) domain of tandem PH-domain-containing protein 1 (TAPP1): molecular basis of lipid specificity". Biochem. J. 358 (Pt 2): 287–94. doi:10.1042/0264-6021:3580287. PMC   1222060 . PMID   11513726.
• Kimber WA, Trinkle-Mulcahy L, Cheung PC, Deak M, Marsden LJ, Kieloch A, Watt S, Javier RT, Gray A, Downes CP, Lucocq JM, Alessi DR (2002). "Evidence that the tandem-pleckstrin-homology-domain-containing protein TAPP1 interacts with Ptd(3,4)P2 and the multi-PDZ-domain-containing protein MUPP1 in vivo". Biochem. J. 361 (Pt 3): 525–36. doi:10.1042/0264-6021:3610525. PMC   1222335 . PMID   11802782.
• Marshall AJ, Krahn AK, Ma K, Duronio V, Hou S (2002). "TAPP1 and TAPP2 Are Targets of Phosphatidylinositol 3-Kinase Signaling in B Cells: Sustained Plasma Membrane Recruitment Triggered by the B-Cell Antigen Receptor". Mol. Cell. Biol. 22 (15): 5479–91. doi:10.1128/MCB.22.15.5479-5491.2002. PMC   133950 . PMID   12101241.
• Kimber WA, Deak M, Prescott AR, Alessi DR (2003). "Interaction of the protein tyrosine phosphatase PTPL1 with the PtdIns(3,4)P2-binding adaptor protein TAPP1". Biochem. J. 376 (Pt 2): 525–35. doi:10.1042/BJ20031154. PMC   1223793 . PMID   14516276.
• Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB (2006). "Susceptibility Genes for Age-Related Maculopathy on Chromosome 10q26". Am. J. Hum. Genet. 77 (3): 389–407. doi:10.1086/444437. PMC   1226205 . PMID   16080115.